ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.1355T>G (p.Val452Gly) (rs751710767)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000368260 SCV000965637 benign Familial platelet disorder with associated myeloid malignancy 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.1355T>G (p.Val452Gly) variant has a MAF of 0.00177 (0.177%, 22/12,406 alleles) in the East Asian subpopulation of the gnomAD cohort that is >/= 0.0015 (0.15%) (BA1). Transactivation assays demonstrating normal transactivation (80-115% of wt) and data from secondary assays demonstrate normal DNA binding and CBF-beta binding (BS3; PMID: 25840971). This missense variant has a REVEL score <0.15 (0.046) and SSF and MES predict either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created (BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BS3, BP4.
Illumina Clinical Services Laboratory,Illumina RCV000368260 SCV000435943 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859033 SCV000638127 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing

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